What is the 100,000 Genomes Project?It’s an England-wide initiative to gather and analyse 100,000 entire human genomes. We will examine two major groups – patients with rare diseases, which is my remit, and patients with cancer. Recruitment starts next month.

Will it actually involve 100,000 people?Not quite, because each volunteer with cancer will provide two genomes, via blood and tissue samples. We need to record the genetic make-up of their healthy cells and that of their tumour. For rare diseases, we will aim to get the genomes of the affected person and their parents, ideally.

How will this help us deal with rare genetic conditions?For a person with a rare disease, even getting a diagnosis can be a very long process. Parents may know their child has many medical problems, which often begin at birth or shortly after, but no one can tell them what their child has, if they will be intellectually normal, disabled, what the child’s lifespan will be… It’s scary, and it’s no good all your doctors saying, “Oh, how interesting, your child has this sort of condition. Gosh, I’ve never met anyone with that.” The project will increase our knowledge of a lot of rare disorders.

Advertisement

Once the genomes are logged, how easy will it be to pin down the causes of rare diseases?That’s the million-dollar question. For some, a genetic change will be obvious, in a gene that perhaps we’ve known about for some time. For others it may be less obvious. But comparisons across the huge data set will be really powerful. Even if someone has a very rare condition – one that perhaps only four or five other people in the entire project have – at least we’ll be able to compare them and ask what they have in common.

Are people keen to volunteer?I think the more severe a rare disease is, the more likely people are to participate. I’ve been sought out by a number of parents who have children with severe medical problems.

Will you help participants make sense of their own genomes?Yes, that’s important. Many people with rare diseases see a geneticist for counselling or are seen often by a clinician, who will help explain the results.

A parent who gives their genome because their child has a genetic disorder will also be offered personal feedback about important findings – if, say, we find they have a genetic change that gives a high predisposition towards certain cancers.

How soon could the work lead to treatments?Once genetic disorders are teased apart, there may be relatively quick treatments for some, where there is already an approved drug that can influence the metabolic pathway involved. For others it’s going to be a much longer journey. A number of treatments for genetic diseases are already being designed and trialled, and in the next five to 10 years that’s going to accelerate.

Profile

Maria Bitner-Glindzicz is a clinical geneticist at the Institute of Child Health, University College London. She is also a clinician at Great Ormond Street Hospital, where she recruits people with rare diseases for the 100,000 Genomes Project

This article appeared in print under the headline “Goal&colon; 100,000 genetic clues”